Mutagenetix > Incidental Mutation

Incidental Mutation 'R8295:Ccdc110'

638891

Institutional Source

Beutler Lab

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

MMRRC Submission

067714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46387656-46397182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46396416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 769 (D769G)

Ref Sequence

ENSEMBL: ENSMUSP00000092964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095326] [ENSMUST00000174815]

AlphaFold

Q3V125

Predicted Effect

probably damaging
Transcript: ENSMUST00000095326
AA Change: D769G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: D769G

Domain	Start	End	E-Value	Type
coiled coil region	442	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,974,188 (GRCm39)	I915S	probably benign	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ahdc1	T	A	4: 132,788,762 (GRCm39)	M1K	probably null	Het
Akr1c12	T	G	13: 4,322,355 (GRCm39)	D229A	probably benign	Het
Ankfn1	C	T	11: 89,302,923 (GRCm39)	V32M	probably benign	Het
C7	A	T	15: 5,018,327 (GRCm39)	C839S	probably damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Clk2	G	T	3: 89,080,766 (GRCm39)	D251Y	probably damaging	Het
Dlx1	C	A	2: 71,362,726 (GRCm39)	P211Q	probably benign	Het
Dock8	G	A	19: 25,100,600 (GRCm39)	A703T	probably benign	Het
Eif2d	T	A	1: 131,085,988 (GRCm39)	L161Q	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fndc3a	T	C	14: 72,789,959 (GRCm39)	I1079V	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,262,234 (GRCm39)	V1104A	probably benign	Het
H2-Ab1	A	T	17: 34,483,816 (GRCm39)	Y59F	probably damaging	Het
Ints2	T	C	11: 86,115,914 (GRCm39)	T772A	probably damaging	Het
Kcnh4	A	G	11: 100,640,523 (GRCm39)	V501A	probably benign	Het
Ltbp1	A	T	17: 75,486,184 (GRCm39)	T70S	probably benign	Het
Obox2	A	G	7: 15,131,247 (GRCm39)	T118A	probably benign	Het
Or52ab4	C	T	7: 102,987,474 (GRCm39)	T71I	probably benign	Het
Or8k17	T	C	2: 86,066,916 (GRCm39)	M88V	probably benign	Het
Pih1d2	C	T	9: 50,532,379 (GRCm39)	H146Y	probably damaging	Het
Pou2af1	C	T	9: 51,144,305 (GRCm39)	S73F	possibly damaging	Het
Rnase2a	T	A	14: 51,493,096 (GRCm39)	I90L	probably benign	Het
S100a16	T	A	3: 90,449,336 (GRCm39)	C4S	probably benign	Het
Sprr1a	T	C	3: 92,391,849 (GRCm39)	K51E	possibly damaging	Het
Tmem168	A	T	6: 13,602,850 (GRCm39)	M172K	probably damaging	Het
Tnrc6b	T	C	15: 80,797,565 (GRCm39)	S1371P	probably damaging	Het
Trav21-dv12	T	A	14: 54,113,510 (GRCm39)	L13*	probably null	Het
Vmn1r234	T	A	17: 21,449,101 (GRCm39)	V5D	probably benign	Het
Vmn2r18	A	G	5: 151,508,621 (GRCm39)	C168R	probably damaging	Het
Vmn2r90	C	T	17: 17,948,358 (GRCm39)	P535S	probably benign	Het
Zfp595	A	G	13: 67,464,764 (GRCm39)	C503R	possibly damaging	Het

Other mutations in Ccdc110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Ccdc110	APN	8	46,395,161 (GRCm39)	missense	possibly damaging	0.76
IGL02175:Ccdc110	APN	8	46,393,660 (GRCm39)	missense	probably benign	0.07
IGL02471:Ccdc110	APN	8	46,394,793 (GRCm39)	missense	probably benign	0.14
IGL02524:Ccdc110	APN	8	46,394,979 (GRCm39)	missense	probably benign
IGL02887:Ccdc110	APN	8	46,396,221 (GRCm39)	missense	probably benign	0.01
IGL03227:Ccdc110	APN	8	46,394,586 (GRCm39)	missense	probably damaging	1.00
IGL03238:Ccdc110	APN	8	46,394,859 (GRCm39)	missense	probably benign	0.00
droll	UTSW	8	46,395,864 (GRCm39)	missense	probably benign	0.10
humorless	UTSW	8	46,396,487 (GRCm39)	missense	probably benign	0.03
R0049:Ccdc110	UTSW	8	46,395,663 (GRCm39)	missense	probably damaging	1.00
R0049:Ccdc110	UTSW	8	46,395,663 (GRCm39)	missense	probably damaging	1.00
R0110:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0189:Ccdc110	UTSW	8	46,388,119 (GRCm39)	missense	probably damaging	0.98
R0218:Ccdc110	UTSW	8	46,387,761 (GRCm39)	splice site	probably benign
R0280:Ccdc110	UTSW	8	46,396,487 (GRCm39)	missense	probably benign	0.03
R0332:Ccdc110	UTSW	8	46,396,001 (GRCm39)	nonsense	probably null
R0371:Ccdc110	UTSW	8	46,395,843 (GRCm39)	missense	possibly damaging	0.86
R0469:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0502:Ccdc110	UTSW	8	46,387,761 (GRCm39)	splice site	probably benign
R0510:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0534:Ccdc110	UTSW	8	46,388,175 (GRCm39)	missense	possibly damaging	0.73
R0647:Ccdc110	UTSW	8	46,396,425 (GRCm39)	missense	probably damaging	0.99
R0714:Ccdc110	UTSW	8	46,396,047 (GRCm39)	missense	possibly damaging	0.71
R0721:Ccdc110	UTSW	8	46,395,026 (GRCm39)	missense	probably benign
R1029:Ccdc110	UTSW	8	46,394,817 (GRCm39)	missense	probably damaging	0.98
R1147:Ccdc110	UTSW	8	46,397,121 (GRCm39)	missense	possibly damaging	0.64
R1147:Ccdc110	UTSW	8	46,397,121 (GRCm39)	missense	possibly damaging	0.64
R1170:Ccdc110	UTSW	8	46,394,922 (GRCm39)	missense	probably benign	0.22
R1340:Ccdc110	UTSW	8	46,395,218 (GRCm39)	missense	probably benign	0.02
R1540:Ccdc110	UTSW	8	46,395,362 (GRCm39)	nonsense	probably null
R1587:Ccdc110	UTSW	8	46,394,783 (GRCm39)	missense	probably benign	0.01
R1602:Ccdc110	UTSW	8	46,391,955 (GRCm39)	missense	probably benign	0.12
R1629:Ccdc110	UTSW	8	46,395,164 (GRCm39)	missense	probably benign	0.08
R1842:Ccdc110	UTSW	8	46,393,605 (GRCm39)	missense	probably damaging	1.00
R1933:Ccdc110	UTSW	8	46,396,287 (GRCm39)	missense	probably damaging	1.00
R1934:Ccdc110	UTSW	8	46,396,287 (GRCm39)	missense	probably damaging	1.00
R2006:Ccdc110	UTSW	8	46,396,349 (GRCm39)	missense	probably damaging	1.00
R2043:Ccdc110	UTSW	8	46,395,864 (GRCm39)	missense	probably benign	0.10
R2093:Ccdc110	UTSW	8	46,395,114 (GRCm39)	missense	probably damaging	1.00
R2165:Ccdc110	UTSW	8	46,395,876 (GRCm39)	missense	probably benign	0.00
R3613:Ccdc110	UTSW	8	46,395,843 (GRCm39)	missense	possibly damaging	0.86
R3923:Ccdc110	UTSW	8	46,395,426 (GRCm39)	missense	probably damaging	1.00
R4648:Ccdc110	UTSW	8	46,395,705 (GRCm39)	missense	possibly damaging	0.95
R4773:Ccdc110	UTSW	8	46,396,245 (GRCm39)	missense	probably damaging	1.00
R4901:Ccdc110	UTSW	8	46,396,437 (GRCm39)	missense	probably benign	0.35
R4911:Ccdc110	UTSW	8	46,395,944 (GRCm39)	missense	probably benign	0.00
R4923:Ccdc110	UTSW	8	46,396,460 (GRCm39)	missense	probably benign	0.29
R5104:Ccdc110	UTSW	8	46,395,729 (GRCm39)	missense	probably damaging	0.99
R5561:Ccdc110	UTSW	8	46,393,646 (GRCm39)	missense	probably benign	0.02
R5966:Ccdc110	UTSW	8	46,395,573 (GRCm39)	missense	probably damaging	1.00
R5976:Ccdc110	UTSW	8	46,396,536 (GRCm39)	missense	possibly damaging	0.71
R6141:Ccdc110	UTSW	8	46,394,807 (GRCm39)	missense	possibly damaging	0.89
R6326:Ccdc110	UTSW	8	46,395,078 (GRCm39)	missense	probably damaging	1.00
R6366:Ccdc110	UTSW	8	46,396,425 (GRCm39)	missense	probably damaging	0.99
R6405:Ccdc110	UTSW	8	46,394,734 (GRCm39)	nonsense	probably null
R6482:Ccdc110	UTSW	8	46,395,825 (GRCm39)	missense	probably benign	0.00
R6815:Ccdc110	UTSW	8	46,395,024 (GRCm39)	missense	probably benign	0.19
R7387:Ccdc110	UTSW	8	46,395,233 (GRCm39)	missense	probably benign	0.00
R7680:Ccdc110	UTSW	8	46,394,688 (GRCm39)	missense	possibly damaging	0.64
R8099:Ccdc110	UTSW	8	46,395,130 (GRCm39)	missense	probably damaging	1.00
R8114:Ccdc110	UTSW	8	46,396,140 (GRCm39)	missense	probably damaging	1.00
R8151:Ccdc110	UTSW	8	46,395,830 (GRCm39)	missense	probably damaging	1.00
R8532:Ccdc110	UTSW	8	46,396,032 (GRCm39)	missense	probably damaging	1.00
R9072:Ccdc110	UTSW	8	46,395,875 (GRCm39)	missense	probably benign	0.00
R9073:Ccdc110	UTSW	8	46,395,875 (GRCm39)	missense	probably benign	0.00
R9088:Ccdc110	UTSW	8	46,394,882 (GRCm39)	missense	probably damaging	0.99
R9803:Ccdc110	UTSW	8	46,395,626 (GRCm39)	missense	probably benign
X0053:Ccdc110	UTSW	8	46,395,998 (GRCm39)	missense	possibly damaging	0.56
X0054:Ccdc110	UTSW	8	46,394,880 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGCCGAAATCAGCAAGG -3'
(R):5'- CAGAATGTACGCACCTTTCAAGTC -3'

Sequencing Primer
(F):5'- ATCAGCAAGGAGTGTGAGATCTTGTC -3'
(R):5'- TGTACGCACCTTTCAAGTCAGAAG -3'

Posted On

2020-07-28